PB2025: MANAGEMENT AND PATIENT ESTIMATION OF AMYLOID LIGHT-CHAIN (AL) AMYLOIDOSIS IN PORTUGAL: RESULTS FROM A PHYSICIANS’ SURVEY
Authors: S. Santos, R. Jaime, F. Pereira, H. Pedrosa, M. Pinto, S. Miguel
Journal: HemaSphere (2022)

Background: Light-chain (AL) amyloidosis is a clonal, non-proliferative plasma cell disorder in which fragments of immunoglobulin light or heavy chain are deposited in tissues in the form of amyloid fibrils. According to an incidence-to-prevalence model from 2019, the estimated incidence in Portugal is 12.50 cases per million individuals, with an equal 5-year prevalence of 35.41 cases per million individuals. Aims: Assess the AL Amyloidosis patient journey, understand treatment strategies in Portugal as well as unmet needs. Estimate AL Amyloidosis patient numbers, including potential underdiagnosis, according to epidemiology, public hospital Diagnosis Related Group (DRG) database and key opinion leaders’ insights. Methods: Market research study supported by qualitative interviews with 4 hematologists key opinion leaders (KOL’s). Total AL Amyloidosis patients were estimated through epidemiologic data available for Portugal and supported by Hospital production quantified using the National Health Service (NHS) hospital Diagnosis Related Group (DRG) database. Results: Most patients begin their medical process through General Practice. After referral, patients are ultimately transferred to Hematology for final diagnosis and follow-up. HCPs report a time to diagnosis of up to one year with multiple referrals needed and limited treatment options. Patients eligible for transplant may reach a median overall survival of 4-5 years, while non-eligible patients tend to live 1 to 2 years after diagnosis. Only 10% of patients are eligible for Autologous Stem Cell Transplant (ASCT), with the preferred choice of treatment being Cyclophosphamide, bortezomib, dexamethasone (VCD). On the other hand, most patients (~90%) are not eligible for ASCT, where VCD triple combination or combinations of proteasome inhibitors are reported Standard of Care (SoC) for frontline treatment. Since effective therapies for this disease are lacking, such results may lead to a widespread use of Daratumumab, as suggested in the recently published Mayo Clinic treatment guidelines. A forecast model was developed, considering a medium value for AL Amyloidosis prevalence in MM patients of 12.5%, and assuming a MM prevalence of 2 262 patients in Portugal. Between 2017 and 2018, only 68 patients were treated with an official diagnosis of AL Amyloidosis in Portuguese hospitals, which is lower than the reported prevalence in the literature. Considering NHS hospital DRG database and assuming the 12.5% prevalence of AL amyloidosis in MM patients, there is an estimate of 351 AL amyloidosis patients in Portugal, from which only 19.4% are properly diagnosed, while 80.6% are potentially miscoded or undiagnosed. Summary/Conclusion: AL amyloidosis pathway is not well established, and hematologists report a long time to diagnosis and treatment. Physicians highlight an urgent need for well-tolerated therapies that can tackle organ involvement, with less frequent adverse effects and less severe toxicity. The lack of awareness in early detection, as well as patients developing AL Amyloidosis after a MM diagnosis that are not classified with the second pathology, are the main reasons claimed by physicians that lead to a possible underdiagnosis in Portuguese hospitals. The undeniable gap between the estimated prevalence of AL amyloidosis patients in Portugal and treated patients with an AL amyloidosis diagnosis coding in Portuguese public hospitals, reinforces the pressing need to adopt health policies that may prevent misdiagnosis/delayed diagnosis.